Canonical Allele Identifier: CA397979080

Gene: CTC1

Linked Data

• gnomAD v4: 17-8232198-G-A
• MyVariant Identifiers: chr17:g.8135516G>A (hg19) ; chr17:g.8232198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232198G>A , CM000679.2:g.8232198G>A	GRCh38
NC_000017.10:g.8135516G>A , CM000679.1:g.8135516G>A	GRCh37
NC_000017.9:g.8076241G>A	NCBI36
NG_032148.1:g.20898C>T
NG_032148.2:g.20898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2090C>T	ENSP00000462607.2:p.Ala697Val
ENST00000581729.2:c.2090C>T	ENSP00000462720.2:p.Ala697Val
ENST00000581967.2:n.2542C>T
ENST00000583254.2:n.2796C>T
ENST00000699849.1:c.1193C>T	ENSP00000514647.1:p.Ala398Val
ENST00000699850.1:n.1353C>T
ENST00000699851.1:n.2112C>T
ENST00000699852.1:c.*766C>T	ENSP00000514648.1:n.*766C>T
ENST00000699853.1:c.2090C>T	ENSP00000514649.1:p.Ala697Val
ENST00000699854.1:n.1883C>T
ENST00000699855.1:n.2542C>T
ENST00000699856.1:c.2090C>T	ENSP00000514650.1:p.Ala697Val
ENST00000699857.1:n.2098C>T
ENST00000699858.1:c.*703C>T	ENSP00000514651.1:n.*703C>T
ENST00000699859.1:c.1961C>T	ENSP00000514652.1:p.Ala654Val
ENST00000699860.1:n.196C>T
ENST00000699861.1:n.2112C>T
ENST00000699862.1:n.3050C>T
ENST00000449476.7:c.1985C>T	ENSP00000396018.2:p.Ala662Val
ENST00000581671.2:n.2079C>T
ENST00000643543.1:c.*797C>T	ENSP00000494323.1:n.*797C>T
ENST00000651323.1:c.2090C>T MANE Select	ENSP00000498499.1:p.Ala697Val
ENST00000315684.12:c.2090C>T	ENSP00000313759.8:p.Ala697Val
ENST00000449476.6:c.1985C>T	ENSP00000396018.2:p.Ala662Val
ENST00000578240.1:n.318C>T
NM_025099.5:c.2090C>T	NP_079375.3:p.Ala697Val
NR_046431.1:n.2044C>T
XM_006721577.2:c.1961C>T	XP_006721640.1:p.Ala654Val
XM_006721578.2:c.2090C>T	XP_006721641.1:p.Ala697Val
XM_006721579.2:c.2090C>T	XP_006721642.1:p.Ala697Val
XM_011524010.1:c.1985C>T	XP_011522312.1:p.Ala662Val
XM_011524011.1:c.1193C>T	XP_011522313.1:p.Ala398Val
XR_429823.2:n.2133C>T
XR_429824.2:n.2133C>T
XR_429825.1:n.2133C>T
NM_025099.6:c.2090C>T MANE Select	NP_079375.3:p.Ala697Val
XM_006721577.3:c.1961C>T	XP_006721640.1:p.Ala654Val
XM_006721578.3:c.2090C>T	XP_006721641.1:p.Ala697Val
XM_011524010.2:c.1985C>T	XP_011522312.1:p.Ala662Val
XM_011524011.2:c.1193C>T	XP_011522313.1:p.Ala398Val
XR_001752639.1:n.2004C>T
XR_001752640.1:n.2133C>T
XR_001752641.1:n.2133C>T
XR_001752642.1:n.2133C>T
XR_001752643.1:n.2563C>T
XR_002958073.1:n.2133C>T
XR_429823.3:n.2133C>T
XR_429824.3:n.2133C>T
NR_046431.2:n.2005C>T